578 results found
    1. Cell Biology
    2. Human Biology and Medicine

    Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases

    King Faisal Yambire et al.
    Transcription factors KLF2 and ETV1 repress the transcriptional program of mitochondrial biogenesis, resulting in impaired mitochondrial function in lysosomal storage diseases.
    1. Neuroscience

    Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

    Ting Zhang et al.
    A potential medication has been found for the brain and muscle degenerative diseases caused by mutant forms of Valosin-Containing Protein.
    1. Cell Biology
    2. Human Biology and Medicine

    QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

    Virginia Guarani et al.
    Building on previous work (Guarani et al., 2015), MICOS (mitochondrial contact site) assembly and cristae junction formation are shown to have a critical role in human health.
    1. Neuroscience

    Live calcium and mitochondrial imaging in the enteric nervous system of Parkinson patients and controls

    An-Sofie Desmet et al.
    In contrast to previous post-mortem or fixed tissue histochemical reports, live calcium and mitochondrial imaging data suggest that the enteric nervous system is not generally affected in Parkinson's disease patients.
    1. Cell Biology
    2. Neuroscience

    MUL1 acts in parallel to the PINK1/parkin pathway in regulating mitofusin and compensates for loss of PINK1/parkin

    Jina Yun et al.
    By reducing mitochondrial fusion, MUL1 compensates for the mutations in PINK1 or parkin that underlie certain cases of Parkinson's disease.
    1. Cell Biology

    Mfn2 ubiquitination by PINK1/parkin gates the p97-dependent release of ER from mitochondria to drive mitophagy

    Gian-Luca McLelland et al.
    A crucial step during the mitophagy cascade involves the disassembly of connections between mitochondria and the endoplasmic reticulum via the retrotranslocation of Mfn2 tethering complexes by the Parkinson's disease genes PARKIN and PINK1, as well as the ATPase VCP/p97.
    1. Cell Biology

    Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study

    Christi T Salisbury-Ruf et al.
    An integrative approach, combining genetic mouse and large-scale human genetics studies, was used to reveal a novel role for the Bcl-2 protein Bid in maintenance of mitochondrial function that alters susceptibility to myocardial infarction.
    1. Cell Biology
    2. Neuroscience

    Presenilin mutations deregulate mitochondrial Ca2+ homeostasis and metabolic activity causing neurodegeneration in Caenorhabditis elegans

    Shaarika Sarasija et al.
    In C. elegans, presenilin functions, independent of its gamma-secretase proteolytic activity, to regulate mitochondrial metabolism by controlling ER-mitochondrial calcium transfer and, even in the absence of Abeta signaling, loss of this activity leads to neurodegeneration.
    1. Human Biology and Medicine

    Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration

    Xinde Zheng et al.
    Rapamycin treatment inhibits mTOR activity and preserves ATP levels in neurons derived from induced pluripotent stem cells from a maternally inherited Leigh syndrome patient.
    1. Cell Biology
    2. Neuroscience

    Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies

    Wei-Hua Lee et al.
    The murine protein TMEM135 is a critical link between aging and age-dependent diseases.

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